Scientists Strive for Better Understanding of Skin Cancer Risk

The Gist

Sun exposure is one of
the main ways to increase your chances of developing skin cancer, but
scientists still don’t know why some sun worshipers develop cancer while
others do not.

New research published in the journal Genetics
from scientists at the University of Alabama at Birmingham (UAB) and
the University of Wisconsin–Madison concludes that the risk of skin
cancer involves many genetic factors, including family history,
ethnicity, and genetic variations in individuals.

The
researchers developed a more precise model for assessing risk—one that
was first developed to breed better dairy cows. The technique, called
whole-genome marker-enabled prediction (WGP), uses all the available
genetic information jointly, instead of looking at a few variants
associated with genes known to cause a given disease. The scientists
theorized that WGP may be better at predicting the risk of complex
diseases, as it has been used successfully in plant and animal breeding
programs.

The Expert Take

Better
prediction of genetic risk for skin cancer could lead to stronger
prevention efforts by providing personalized information to patients and
hopefully, helping detect the disease early.

“Although there is
no doubt that sun exposure increases your risk for skin cancer, it isn't
clear how much of a risk it poses to each individual,” said Mark
Johnston, Editor-in-Chief of Genetics. “This new model for
assessing risk should prove useful to health care providers and public
health officials, who play a crucial role in educating people about
preventing skin cancer."

The researchers admit they are still refining the technique, but are pleased with results so far.

“While
many aspects of this technique are still under development, our new
predictive model was able to account for a large proportion of each
person’s predisposition for skin cancer,” said lead study author Ana
Inés Vázquez, Ph.D., from UAB's Department of Biostatistics. “We hope
this study will ultimately contribute to a better understanding of the
genetics of complex traits and diseases—such an understanding is
essential for the development of methods that can be used for early and
improved prediction of genetic predisposition to diseases.”

This research is also noteworthy because scientists took an animal model and applied it to humans in a unique and inventive way.

“Dr.
Vázquez’s work represents one of the first uses of WGP to predict risk
for a complex disease phenotype with clinical relevance,” said study
author David Allison, Ph.D., Associate Dean for science at the UAB
School of Public Health. “Her story is one of interdisciplinary
creativity in applying concepts developed in animal breeding to human
population genetics, which reflects our core approach to research at
UAB.”

The Takeaway

Skin
cancer is the most common form of cancer, and it incidence continues to
rise. While ultraviolet (UV) exposure and light skin pigmentation are
major risk factors for all types of skin cancer, evidence suggests that
genetic factors also play a role, independent of skin pigmentation,
according to the new study.

While many aspects of the risk model
are still under development, the results could lead to a clearer
understanding of why some people develop cancer.

“More
developments are needed before this methodology can be considered for
establishing prevention strategies,” Vázquez said. “We are enthusiastic
about the prospects of further developing this methodology for the
prediction of human traits and diseases.”

Source and Method

Scientists
used phenotypic and genetic information from more than 5,000 familial
participants in the Framingham Heart Study to develop various models for
assessing skin cancer risk.

The risk evaluation model included
standard risk factors, such as gender, and then developed more
predictive models using information on family history, ethnicity, and
data from 41,000 genetic markers across the human genome. The predictive
power of each model was evaluated, with the best prediction accuracy
obtained from models that included all predictive risk factors.

Other Research

Previous studies, including this 2008 British study, have shown that genetic factors play an important role in predisposition to skin cancer.

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